Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient

Kasatkar Priyanka; Kulkarni Bipin; Ghosh Kanjaksha; Shetty Shrimati

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Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient

机译：有义，无义和无稽之谈：重度von Willebrand病（VWD）患者中过早终止密码子（PTC）突变的新机制

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来源
《Annals of hematology 》 |2015年第8期| 共2页
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Kasatkar Priyanka; Kulkarni Bipin; Ghosh Kanjaksha; Shetty Shrimati;
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正文语种 eng
中图分类血液及淋巴系疾病 ;
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1. Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient [J] . Kasatkar Priyanka, Kulkarni Bipin, Ghosh Kanjaksha, Annals of hematology . 2015 ,第8期

机译：有义，无义和无稽之谈：重度von Willebrand病（VWD）患者中过早终止密码子（PTC）突变的新机制
2. Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease. [J] . Baronciani L, Federici AB, Cozzi G, Haemophilia: the official journal of the World Federation of Hemophilia . 2008 ,第3期

机译：3型von Willebrand病患者位于von Willebrand因子前肽中的错义突变p.D141Y，p.C275S的表达研究。
3. A Gly1609Arg missense mutation in the vwf gene in a korean patient with von Willebrand disease type 2A [J] . ChoiS.J., LeeE.-Y., KimH.-J., Annals of Clinical and Laboratory Science: Official Journal of the Association of Clinical Scientists . 2012 ,第1期

机译：一名患有2A型von Willebrand疾病的韩国患者vwf基因中的Gly1609Arg错义突变
4. Characterization of amino acids inserted at premature termination codons (PTCs) via nonsense suppression reveals novel base pairing of near-cognate tRNAs. [C] . John D. Leszyk, Bijoyita Roy, David Mangus, ASMS Conference on Mass Spectrometry and Allied Topics . 2015

机译：通过非阵容抑制插入在过早终止密码子（PTCS）的氨基酸的表征揭示了近同源TrNA的新碱基配对。
5. Investigating the genetic basis of type 3 of von Willebrand Disease (VWD) [D] . Bowman, Mackenzie Leigh 2014

机译：研究von Willebrand病（VWD）3型的遗传基础
6. Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease [O] . Hamideh Yadegari, Julia Driesen, Anna Pavlova, 2013

机译：洞见von Willebrand因子C末端结构域错义突变导致定性或定量von Willebrand病的病理机制
7. Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: Definite evidence for the non-penetrance of the C2362F mutation [O] . G. Castaman, K. Bertoncello, M. Bernardi, 2007

机译：与复合杂合子相关的常染色体隐性von Willebrand疾病，用于新的非礼突变（2908德尔C）和畸变突变C2362F：C2362F突变非渗透的确定证据

Sense, missense, and nonsense: a novel mechanism of premature termination codon (PTC) mutation in a severe von Willebrand disease (VWD) patient

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